(Q34586198)

3 August 2017

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles (English)

1 reference

3 August 2017

27

Peter Devilee

0 references

Paolo Peterlongo

4

Paolo Peterlongo

0 references

Sylvie Mazoyer

Sylvie Mazoyer

13

0 references

Anna González-Neira

Anna Gonzalez-Neira

10

0 references

Siranoush Manoukian

Siranoush Manoukian

18

0 references

Ana Osorio

Ana Osorio

8

0 references

Paolo Radice

Paolo Radice

26

0 references

Melissa C. Southey

Melissa Southey

16

0 references

Miguel de la Hoya

Miguel de la Hoya

6

0 references

John Hopper

14

John Hopper

1 reference

3 August 2017

28

Javier Benitez

1 reference

3 August 2017

Christi J van Asperen

23

Christi J van Asperen

1 reference

3 August 2017

25

David Goldgar

1 reference

3 August 2017

24

Hans F A Vasen

1 reference

3 August 2017

15

Conchi Lazaro

1 reference

3 August 2017

22

Florentine S M Hilbers

1 reference

3 August 2017

12

Olga Sinilnikova

1 reference

3 August 2017

19

Irene Catucci

1 reference

3 August 2017

3

Guillermo Pita

1 reference

3 August 2017

20

Trinidad Caldes

1 reference

3 August 2017

Francisco Javier Gracia-Aznarez

1

1 reference

3 August 2017

Victoria Fernandez

2

1 reference

3 August 2017

Orlando Dominguez

5

1 reference

3 August 2017

Mercedes Duran

7

1 reference

3 August 2017

Leticia Moreno

9

1 reference

3 August 2017

Juan Manuel Rosa-Rosa

11

1 reference

3 August 2017

Fabrice Odefrey

17

1 reference

3 August 2017

Henry T Lynch

21

1 reference

3 August 2017

language of work or name

English

0 references

publication date

8 February 2013

1 reference

3 August 2017

1 reference

3 August 2017

8

1 reference

3 August 2017

2

1 reference

3 August 2017

e55681

1 reference

Creative Commons Attribution 4.0 International

3 August 2017

start time

8 February 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Genome-wide association analysis identifies three new breast cancer susceptibility loci

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Germline mutations in RAD51D confer susceptibility to ovarian cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Genome-wide association study identifies five new breast cancer susceptibility loci

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Architecture of inherited susceptibility to common cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

A method and server for predicting damaging missense mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

The Sequence Alignment/Map format and SAMtools

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

PLINK: a tool set for whole-genome association and population-based linkage analyses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Genome-wide association study identifies novel breast cancer susceptibility loci

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Very high risk of cancer in familial Peutz-Jeghers syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Identification of the breast cancer susceptibility gene BRCA2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0055681

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0055681

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0055681

Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0055681

Screening for germ line TP53 mutations in breast cancer patients

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3568132

A role for common genomic variants in the assessment of familial breast cancer

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23409019

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Polygenic inheritance of breast cancer: Implications for design of association studies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23409019

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0055681

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference